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Case Reports in Neurological Medicine
Volume 2014 (2014), Article ID 141953, 4 pages
http://dx.doi.org/10.1155/2014/141953
Case Report

Congenital Insensitivity to Pain: A Case Report and Review of the Literature

1The Neuro-Genetics Institute, 501 Elmwood Avenue, Sharon Hill, PA 19079, USA
2Neuroscience Institute, Saint Francis Medical Center, School of Health and Medical Sciences, Seton Hall University, Saint Francis Medical Center, 601 Hamilton Avenue, Trenton, NJ 08629, USA

Received 4 June 2014; Revised 5 September 2014; Accepted 5 September 2014; Published 18 September 2014

Academic Editor: Pablo Mir

Copyright © 2014 Leema Reddy Peddareddygari et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Congenital insensitivity to pain (CIP) is a rare autosomal recessive genetic disease caused by mutations in the SCN9A gene. We report a patient with the clinical features consistent with CIP in whom we detected a novel homozygous G2755T mutation in exon 15 of this gene. Routine electrophysiological studies are typically normal in patients with CIP. In our patient, these studies were abnormal and could represent the consequences of secondary complications of cervical and lumbosacral spine disease and associated severe Charcot’s joints.